OBO ID: DOID:0110729
Term Name: neuronal ceroid lipofuscinosis 6A Search Ontology:
Synonyms:
  • CLN6
  • neuronal ceroid lipofuscinosis 6
  • neuronal ceroid lipofuscinosis 6 variable age of onset
Definition: A neuronal ceroid lipofuscinosis that is characterized by progressive decline of neurologic function, including visual deterioration in most, cognitive impairment, loss of motor function, and seizures and has_material_basis_in homozygous mutation in the CLN6 gene on chromosome 15q21-q23. (2)
References:
Ontology: Human Disease   (DOID:0110729)
Relationships
is a type of:
OTHER neuronal ceroid lipofuscinosis 6A PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CLN6